ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.3029C>T (p.Pro1010Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004332602 SCV004007371 uncertain significance not specified 2023-06-05 criteria provided, single submitter clinical testing The c.3029C>T (p.P1010L) alteration is located in exon 9 (coding exon 7) of the GLTSCR1 gene. This alteration results from a C to T substitution at nucleotide position 3029, causing the proline (P) at amino acid position 1010 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427730 SCV004142079 benign not provided 2024-08-01 criteria provided, single submitter clinical testing BICRA: BS1, BS2

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